inheritance

A useful but unwieldy CMT classification system helps make sense of the many subtypes of the disease

posted on July 1, 2011 - 2:17pm
As recently as the early 1990s, many experts hoped that understanding just a few genes that influenced the development or maintenance of myelin or axons would explain all of Charcot-Marie-Tooth disease. It didn’t turn out to be that simple, however. Today, there are dozens of genes recognized that, when flawed, can cause CMT.

A useful but unwieldy CMT classification system helps make sense of the many subtypes of the disease

posted on July 1, 2011 - 2:17pm
QUEST Vol. 18, No. 3
As recently as the early 1990s, many experts hoped that understanding just a few genes that influenced the development or maintenance of myelin or axons would explain all of Charcot-Marie-Tooth disease. It didn’t turn out to be that simple, however. Today, there are dozens of genes recognized that, when flawed, can cause CMT.
posted on February 1, 2002 - 3:39pm
Wendy Salo's doctors told her she was suffering from stress — or perhaps chronic fatigue syndrome. But Salo knew there was something else going on. At the time, she was in her late 30s. Admittedly, she had reason to be tired and stressed. She had a full-time job developing software for banks, and she had a husband and two teen-age sons. But, to her way of thinking, those factors couldn't account...
posted on February 1, 2002 - 12:42pm
Sheila Smith of Brookhaven, Miss., can't get over the feeling that myotonic dystrophy is an unwelcome, and unexpected, intruder in her family. It started in November 1998, when her husband, Michael, then 33, had a car accident. "We feel that he fell asleep at the wheel," Sheila says.

Family histories help solve medical mysteries

posted on February 1, 2002 - 12:02pm
The year was 1992, and neurologist John Day had recently moved from the University of California at San Francisco to the University of Minnesota at Minneapolis, where he was to assume the directorship of the MDA clinic. (Day still holds this position, at what is now the Fairview-University Medical Center. He's also an associate professor of neurology at the university.) Earlier that year, a...
posted on April 1, 2000 - 12:30pm
Pam Rhatigan remembers the day in 1981 when she and her husband, Brian, finished their genetic counseling sessions at the University of Arizona's medical center. They'd gone to discuss the chances that a baby they might conceive could be born with spinal muscular atrophy, a genetic disorder of muscle-controlling nerve cells that Pam was born with in 1953. There was no family history and little...